Jennifer Howe

The sodium channel SCN2A regulates cortical excitatory and inhibitory neurogenesis

This study shows that SCN2A loss in human forebrain organoids impairs excitatory and inhibitory neurogenesis, leading to developmental imbalances and reversible through Sonic hedgehog inhibition.

Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorder

The paper curates 222 genes associated with autism spectrum disorder (ASD) using the EAGLE framework, identifying 78 with definitive evidence and highlighting differential expression patterns between ASD and broader neurodevelopmental disorders.

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons

This study examines how different SCN2A de novo variants affect human neuron development and function using patient-derived iPSCs.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

Gene copy number variation in pediatric mental illness in a general population

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.

CNTN5-/+ or EHMT2-/+ iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.